Incidental Mutation 'R7827:Alpk1'
ID |
602231 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alpk1
|
Ensembl Gene |
ENSMUSG00000028028 |
Gene Name |
alpha-kinase 1 |
Synonyms |
8430410J10Rik |
MMRRC Submission |
045881-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7827 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
127463959-127574176 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 127473700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 768
(S768T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143223
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029662]
[ENSMUST00000198955]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029662
AA Change: S768T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000029662 Gene: ENSMUSG00000028028 AA Change: S768T
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
low complexity region
|
618 |
628 |
N/A |
INTRINSIC |
low complexity region
|
700 |
714 |
N/A |
INTRINSIC |
low complexity region
|
902 |
914 |
N/A |
INTRINSIC |
low complexity region
|
924 |
947 |
N/A |
INTRINSIC |
Alpha_kinase
|
1008 |
1215 |
1.03e-81 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159720
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198955
AA Change: S768T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000143223 Gene: ENSMUSG00000028028 AA Change: S768T
Domain | Start | End | E-Value | Type |
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
low complexity region
|
618 |
628 |
N/A |
INTRINSIC |
low complexity region
|
700 |
714 |
N/A |
INTRINSIC |
low complexity region
|
902 |
914 |
N/A |
INTRINSIC |
low complexity region
|
924 |
947 |
N/A |
INTRINSIC |
Alpha_kinase
|
1008 |
1215 |
1.03e-81 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
A |
G |
3: 59,651,112 (GRCm39) |
N78S |
probably damaging |
Het |
Abca12 |
G |
A |
1: 71,453,837 (GRCm39) |
|
probably benign |
Het |
Abcb1b |
T |
C |
5: 8,887,747 (GRCm39) |
S878P |
probably damaging |
Het |
Adamts20 |
T |
C |
15: 94,223,814 (GRCm39) |
R1305G |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,837,400 (GRCm39) |
C650S |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,982,708 (GRCm39) |
K1331* |
probably null |
Het |
Ap4b1 |
T |
G |
3: 103,722,398 (GRCm39) |
L124R |
probably damaging |
Het |
Arrdc2 |
A |
T |
8: 71,292,038 (GRCm39) |
F3Y |
probably damaging |
Het |
Atp9a |
A |
G |
2: 168,547,114 (GRCm39) |
V155A |
probably benign |
Het |
Bptf |
A |
G |
11: 106,938,013 (GRCm39) |
S87P |
probably benign |
Het |
Carmil1 |
A |
T |
13: 24,220,421 (GRCm39) |
M697K |
probably benign |
Het |
Ccdc42 |
G |
A |
11: 68,485,022 (GRCm39) |
V32M |
probably benign |
Het |
Cert1 |
A |
G |
13: 96,753,563 (GRCm39) |
H391R |
probably damaging |
Het |
Ces1d |
A |
G |
8: 93,924,294 (GRCm39) |
|
probably null |
Het |
Dcpp2 |
T |
G |
17: 24,119,566 (GRCm39) |
Y127D |
probably damaging |
Het |
Def8 |
C |
A |
8: 124,174,060 (GRCm39) |
T7K |
probably benign |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
En2 |
G |
A |
5: 28,371,594 (GRCm39) |
G24S |
probably benign |
Het |
Evi2a |
T |
C |
11: 79,418,688 (GRCm39) |
|
probably benign |
Het |
Fam117b |
A |
T |
1: 59,952,837 (GRCm39) |
H172L |
possibly damaging |
Het |
Fam169b |
A |
G |
7: 67,954,338 (GRCm39) |
I67M |
probably benign |
Het |
Fbxo40 |
T |
A |
16: 36,789,861 (GRCm39) |
E416D |
probably damaging |
Het |
Gja8 |
T |
A |
3: 96,827,635 (GRCm39) |
N9I |
possibly damaging |
Het |
Gsg1l2 |
T |
A |
11: 67,676,097 (GRCm39) |
C154S |
probably benign |
Het |
Hdhd3 |
C |
A |
4: 62,418,232 (GRCm39) |
|
probably benign |
Het |
Hunk |
C |
T |
16: 90,278,214 (GRCm39) |
P341L |
possibly damaging |
Het |
Ighv8-5 |
T |
C |
12: 115,031,258 (GRCm39) |
T94A |
possibly damaging |
Het |
Ints3 |
T |
C |
3: 90,331,319 (GRCm39) |
N75D |
probably benign |
Het |
Krt39 |
T |
C |
11: 99,409,901 (GRCm39) |
E212G |
probably damaging |
Het |
Ldlrad4 |
A |
G |
18: 68,387,495 (GRCm39) |
H269R |
probably damaging |
Het |
Lrrc2 |
T |
A |
9: 110,790,049 (GRCm39) |
V102E |
possibly damaging |
Het |
Ltbp2 |
T |
A |
12: 84,836,655 (GRCm39) |
I1292L |
probably benign |
Het |
Mad2l1bp |
A |
T |
17: 46,458,993 (GRCm39) |
V179E |
possibly damaging |
Het |
Map3k1 |
A |
G |
13: 111,892,663 (GRCm39) |
V864A |
probably benign |
Het |
Mapk8ip2 |
T |
G |
15: 89,342,322 (GRCm39) |
V511G |
probably damaging |
Het |
Mknk2 |
A |
C |
10: 80,503,021 (GRCm39) |
S434A |
probably benign |
Het |
Mllt11 |
A |
G |
3: 95,127,548 (GRCm39) |
F74S |
probably damaging |
Het |
Muc16 |
G |
T |
9: 18,506,519 (GRCm39) |
T6412K |
possibly damaging |
Het |
Nek5 |
C |
A |
8: 22,573,403 (GRCm39) |
A518S |
possibly damaging |
Het |
Npy1r |
T |
C |
8: 67,156,864 (GRCm39) |
F95L |
possibly damaging |
Het |
Nup98 |
G |
A |
7: 101,773,569 (GRCm39) |
T1586I |
probably benign |
Het |
Olig3 |
A |
T |
10: 19,232,518 (GRCm39) |
M48L |
probably benign |
Het |
Or13n4 |
A |
G |
7: 106,422,932 (GRCm39) |
M267T |
probably benign |
Het |
Or14j7 |
T |
A |
17: 38,234,568 (GRCm39) |
L37* |
probably null |
Het |
Or5b120 |
T |
G |
19: 13,480,587 (GRCm39) |
N293K |
probably damaging |
Het |
Or6aa1 |
T |
A |
7: 86,043,765 (GRCm39) |
K314* |
probably null |
Het |
Pcdhb16 |
A |
G |
18: 37,611,904 (GRCm39) |
D288G |
possibly damaging |
Het |
Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,790,886 (GRCm39) |
I687V |
probably benign |
Het |
Piezo1 |
G |
A |
8: 123,209,659 (GRCm39) |
T2348M |
probably damaging |
Het |
Plod3 |
A |
G |
5: 137,018,835 (GRCm39) |
T291A |
probably benign |
Het |
Pmpca |
G |
A |
2: 26,280,144 (GRCm39) |
V89I |
possibly damaging |
Het |
Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
Pou6f2 |
C |
A |
13: 18,553,092 (GRCm39) |
A81S |
|
Het |
Ppl |
T |
A |
16: 4,905,828 (GRCm39) |
E1489V |
probably damaging |
Het |
Ptpdc1 |
A |
G |
13: 48,733,264 (GRCm39) |
F792S |
probably damaging |
Het |
Pus1 |
A |
G |
5: 110,927,582 (GRCm39) |
Y58H |
probably damaging |
Het |
Rex2 |
C |
A |
4: 147,142,547 (GRCm39) |
T345N |
possibly damaging |
Het |
Rnf144a |
T |
C |
12: 26,389,439 (GRCm39) |
M1V |
probably null |
Het |
Siglec15 |
A |
T |
18: 78,100,445 (GRCm39) |
C13* |
probably null |
Het |
Skint10 |
G |
A |
4: 112,632,003 (GRCm39) |
Q6* |
probably null |
Het |
Slc5a1 |
T |
C |
5: 33,304,057 (GRCm39) |
W291R |
probably damaging |
Het |
Snx27 |
A |
G |
3: 94,426,366 (GRCm39) |
F378L |
probably benign |
Het |
Strip2 |
A |
T |
6: 29,923,928 (GRCm39) |
T81S |
probably benign |
Het |
Tas2r143 |
A |
G |
6: 42,377,656 (GRCm39) |
N162S |
probably damaging |
Het |
Tatdn1 |
T |
C |
15: 58,776,607 (GRCm39) |
D256G |
probably benign |
Het |
Tbc1d5 |
A |
G |
17: 51,089,291 (GRCm39) |
S630P |
probably damaging |
Het |
Tlr11 |
A |
G |
14: 50,598,611 (GRCm39) |
D199G |
probably benign |
Het |
Tmed8 |
C |
A |
12: 87,246,991 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
Ttll3 |
TAA |
TAAAGCAA |
6: 113,376,123 (GRCm39) |
|
probably null |
Het |
U2af2 |
T |
C |
7: 5,077,661 (GRCm39) |
|
probably null |
Het |
Ywhag |
C |
T |
5: 135,940,394 (GRCm39) |
E67K |
probably damaging |
Het |
Zfp105 |
A |
G |
9: 122,759,808 (GRCm39) |
H493R |
probably damaging |
Het |
Zfp426 |
A |
T |
9: 20,381,446 (GRCm39) |
C514S |
probably damaging |
Het |
Zfp536 |
T |
A |
7: 37,269,113 (GRCm39) |
D101V |
probably damaging |
Het |
|
Other mutations in Alpk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00096:Alpk1
|
APN |
3 |
127,474,692 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00722:Alpk1
|
APN |
3 |
127,473,862 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01066:Alpk1
|
APN |
3 |
127,473,874 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01351:Alpk1
|
APN |
3 |
127,466,011 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01412:Alpk1
|
APN |
3 |
127,473,621 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL01469:Alpk1
|
APN |
3 |
127,471,401 (GRCm39) |
splice site |
probably null |
|
IGL01585:Alpk1
|
APN |
3 |
127,473,462 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02308:Alpk1
|
APN |
3 |
127,522,931 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02325:Alpk1
|
APN |
3 |
127,473,552 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02458:Alpk1
|
APN |
3 |
127,474,968 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02553:Alpk1
|
APN |
3 |
127,466,970 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02717:Alpk1
|
APN |
3 |
127,474,749 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL02729:Alpk1
|
APN |
3 |
127,474,721 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02832:Alpk1
|
APN |
3 |
127,473,592 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL02892:Alpk1
|
APN |
3 |
127,473,771 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03178:Alpk1
|
APN |
3 |
127,473,870 (GRCm39) |
nonsense |
probably null |
|
R0427:Alpk1
|
UTSW |
3 |
127,464,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R0981:Alpk1
|
UTSW |
3 |
127,473,051 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1174:Alpk1
|
UTSW |
3 |
127,474,459 (GRCm39) |
missense |
probably damaging |
0.99 |
R1793:Alpk1
|
UTSW |
3 |
127,471,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R1859:Alpk1
|
UTSW |
3 |
127,474,749 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2173:Alpk1
|
UTSW |
3 |
127,477,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R2235:Alpk1
|
UTSW |
3 |
127,474,569 (GRCm39) |
missense |
probably benign |
0.01 |
R2373:Alpk1
|
UTSW |
3 |
127,473,457 (GRCm39) |
missense |
probably benign |
0.00 |
R3803:Alpk1
|
UTSW |
3 |
127,473,486 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3927:Alpk1
|
UTSW |
3 |
127,471,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R4357:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R4358:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R4379:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R4381:Alpk1
|
UTSW |
3 |
127,523,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R4470:Alpk1
|
UTSW |
3 |
127,473,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R4471:Alpk1
|
UTSW |
3 |
127,473,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R4473:Alpk1
|
UTSW |
3 |
127,473,667 (GRCm39) |
missense |
probably damaging |
0.97 |
R4474:Alpk1
|
UTSW |
3 |
127,473,667 (GRCm39) |
missense |
probably damaging |
0.97 |
R4476:Alpk1
|
UTSW |
3 |
127,473,667 (GRCm39) |
missense |
probably damaging |
0.97 |
R4512:Alpk1
|
UTSW |
3 |
127,478,120 (GRCm39) |
intron |
probably benign |
|
R4594:Alpk1
|
UTSW |
3 |
127,477,203 (GRCm39) |
missense |
probably damaging |
1.00 |
R4678:Alpk1
|
UTSW |
3 |
127,473,507 (GRCm39) |
missense |
probably damaging |
0.99 |
R4707:Alpk1
|
UTSW |
3 |
127,481,241 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4784:Alpk1
|
UTSW |
3 |
127,481,241 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4785:Alpk1
|
UTSW |
3 |
127,481,241 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4820:Alpk1
|
UTSW |
3 |
127,464,708 (GRCm39) |
missense |
probably benign |
0.06 |
R4887:Alpk1
|
UTSW |
3 |
127,467,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R5088:Alpk1
|
UTSW |
3 |
127,478,969 (GRCm39) |
splice site |
probably benign |
|
R5169:Alpk1
|
UTSW |
3 |
127,464,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R5280:Alpk1
|
UTSW |
3 |
127,474,813 (GRCm39) |
missense |
probably benign |
0.00 |
R5351:Alpk1
|
UTSW |
3 |
127,522,941 (GRCm39) |
missense |
probably damaging |
0.96 |
R5478:Alpk1
|
UTSW |
3 |
127,471,368 (GRCm39) |
missense |
probably damaging |
1.00 |
R5627:Alpk1
|
UTSW |
3 |
127,474,296 (GRCm39) |
missense |
probably damaging |
0.99 |
R5781:Alpk1
|
UTSW |
3 |
127,473,684 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5842:Alpk1
|
UTSW |
3 |
127,474,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R5847:Alpk1
|
UTSW |
3 |
127,473,723 (GRCm39) |
missense |
probably benign |
0.06 |
R5940:Alpk1
|
UTSW |
3 |
127,464,595 (GRCm39) |
missense |
probably benign |
|
R6187:Alpk1
|
UTSW |
3 |
127,466,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R6306:Alpk1
|
UTSW |
3 |
127,479,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R6414:Alpk1
|
UTSW |
3 |
127,473,858 (GRCm39) |
missense |
probably benign |
|
R6701:Alpk1
|
UTSW |
3 |
127,522,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R6735:Alpk1
|
UTSW |
3 |
127,518,098 (GRCm39) |
missense |
probably damaging |
1.00 |
R6850:Alpk1
|
UTSW |
3 |
127,523,012 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7173:Alpk1
|
UTSW |
3 |
127,478,024 (GRCm39) |
nonsense |
probably null |
|
R7258:Alpk1
|
UTSW |
3 |
127,518,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R7412:Alpk1
|
UTSW |
3 |
127,489,382 (GRCm39) |
missense |
probably damaging |
1.00 |
R7412:Alpk1
|
UTSW |
3 |
127,466,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R7498:Alpk1
|
UTSW |
3 |
127,473,427 (GRCm39) |
missense |
probably benign |
0.22 |
R7635:Alpk1
|
UTSW |
3 |
127,489,310 (GRCm39) |
missense |
probably benign |
0.01 |
R7660:Alpk1
|
UTSW |
3 |
127,474,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R7682:Alpk1
|
UTSW |
3 |
127,466,195 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7732:Alpk1
|
UTSW |
3 |
127,478,041 (GRCm39) |
missense |
|
|
R8029:Alpk1
|
UTSW |
3 |
127,522,934 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8383:Alpk1
|
UTSW |
3 |
127,518,085 (GRCm39) |
missense |
probably benign |
0.41 |
R8478:Alpk1
|
UTSW |
3 |
127,522,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R8765:Alpk1
|
UTSW |
3 |
127,466,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R8816:Alpk1
|
UTSW |
3 |
127,478,024 (GRCm39) |
nonsense |
probably null |
|
R8907:Alpk1
|
UTSW |
3 |
127,474,642 (GRCm39) |
nonsense |
probably null |
|
R8972:Alpk1
|
UTSW |
3 |
127,473,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R8974:Alpk1
|
UTSW |
3 |
127,473,580 (GRCm39) |
missense |
probably benign |
0.03 |
R9039:Alpk1
|
UTSW |
3 |
127,473,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R9202:Alpk1
|
UTSW |
3 |
127,479,938 (GRCm39) |
missense |
|
|
R9394:Alpk1
|
UTSW |
3 |
127,466,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R9421:Alpk1
|
UTSW |
3 |
127,467,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R9436:Alpk1
|
UTSW |
3 |
127,478,924 (GRCm39) |
missense |
|
|
R9785:Alpk1
|
UTSW |
3 |
127,473,594 (GRCm39) |
missense |
probably benign |
0.22 |
Z1176:Alpk1
|
UTSW |
3 |
127,467,087 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Alpk1
|
UTSW |
3 |
127,478,956 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCTGGTCTCTGACTGAGC -3'
(R):5'- TTCAGTCCAGTCATTCGTGTG -3'
Sequencing Primer
(F):5'- ACTGAGCAGCCAGTCTTTG -3'
(R):5'- GATTCCTGGTCCTTGTCTAGTTCAG -3'
|
Posted On |
2019-12-03 |